NEUROD1

neuronal differentiation 1

Summary

This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]

Known Variants236 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs929497632	2:182,540,916	G/T	—	uncertain significance
rs187310461	2:182,540,922	C/T	—	benign
rs1035423254	2:182,540,934	A/G	—	uncertain significance
rs192155087	2:182,540,962	G/A	—	likely benign
rs1688569851	2:182,541,031	T/C	—	uncertain significance
rs17847284	2:182,541,178	A/G	—	benign
rs1688578868	2:182,541,392	A/C	—	uncertain significance
rs188774781	2:182,541,421	A/G	—	uncertain significance
rs555224400	2:182,541,484	A/C	—	benign
rs747758950	2:182,541,610	A/G	—	uncertain significance
rs752652027	2:182,541,658	G/T	—	uncertain significance
rs1688587199	2:182,541,698	G/C	—	uncertain significance
rs946367001	2:182,541,722	A/G	—	uncertain significance
rs886055319	2:182,541,744	T/G	—	uncertain significance
rs184299700	2:182,541,798	C/T	—	likely benign
rs886055320	2:182,541,799	G/A	—	uncertain significance
rs886055323	2:182,541,900	G/A	—	uncertain significance
rs1688595150	2:182,541,909	A/G	—	uncertain significance
rs886055324	2:182,541,969	A/T	—	uncertain significance
rs923588837	2:182,542,063	G/A	—	uncertain significance
rs535699215	2:182,542,234	T/C	—	uncertain significance
rs546609239	2:182,542,264	T/C	—	uncertain significance
rs41270211	2:182,542,439	G/A	—	likely benign
rs1688606060	2:182,542,442	C/A	—	uncertain significance
rs576676213	2:182,542,511	G/T	—	benign
rs148104444	2:182,542,516	T/C	—	likely benign
rs1007142199	2:182,542,521	T/C	—	uncertain significance
rs2105593860	2:182,542,525	G/A	—	uncertain significance
rs2468608645	2:182,542,527	A/T	—	uncertain significance
rs774325551	2:182,542,533	G/T	—	uncertain significance
rs778703927	2:182,542,538	G/C	—	likely benign
rs771797718	2:182,542,545	G/A	—	uncertain significance
rs367986359	2:182,542,548	C/A	—	uncertain significance
rs140129079	2:182,542,553	G/T	—	likely benign
rs763573674	2:182,542,555	C/G	—	uncertain significance
rs146389992	2:182,542,557	C/T	—	uncertain significance
rs370447253	2:182,542,564	G/T	—	uncertain significance
rs1189984054	2:182,542,566	T/C	—	uncertain significance
rs767837260	2:182,542,575	C/G	—	uncertain significance
rs2468608713	2:182,542,577	A/G	—	likely benign
rs2468608729	2:182,542,586	C/T	—	uncertain significance
rs1394958379	2:182,542,592	A/G	—	likely benign
rs764112638	2:182,542,595	G/T	—	uncertain significance
rs2105593985	2:182,542,598	T/C	—	uncertain significance
rs2105593988	2:182,542,599	A/G	—	uncertain significance
rs764986451	2:182,542,606	T/C	—	uncertain significance
rs184871420	2:182,542,610	G/T	—	uncertain significance
rs368727469	2:182,542,615	G/T	—	conflicting classifications of pathogenicity
rs1688611235	2:182,542,621	C/G	—	uncertain significance
rs779700941	2:182,542,622	A/G	—	likely benign
rs746648417	2:182,542,623	G/T	—	likely benign
rs754458532	2:182,542,624	C/T	—	conflicting classifications of pathogenicity
rs780896354	2:182,542,625	G/A	—	likely benign
rs2468608802	2:182,542,632	G/A	—	uncertain significance
rs1262797916	2:182,542,640	T/G	—	likely benign
rs1559135056	2:182,542,644	C/G	—	uncertain significance
rs2468608839	2:182,542,649	G/A	—	likely benign
rs775739993	2:182,542,653	T/C	—	uncertain significance
rs2105594099	2:182,542,655	G/A	—	likely benign
rs1475260624	2:182,542,657	C/T	—	uncertain significance
rs1169882783	2:182,542,661	T/C	—	likely benign
rs2468608920	2:182,542,670	C/T	—	likely benign
rs115159138	2:182,542,671	G/A	—	uncertain significance
rs886055327	2:182,542,680	T/C	—	uncertain significance
rs1352948821	2:182,542,683	T/C	—	uncertain significance
rs149047988	2:182,542,688	G/A	—	likely benign
rs8192557	2:182,542,706	C/T	—	likely benign
rs970297397	2:182,542,707	T/C	—	uncertain significance
rs2105594218	2:182,542,709	A/G	—	likely benign
rs1415512267	2:182,542,715	G/A	—	likely benign
rs754622413	2:182,542,720	A/G	—	uncertain significance
rs2468609099	2:182,542,725	T/A	—	uncertain significance
rs747715154	2:182,542,726	C/G	—	uncertain significance
rs2468609119	2:182,542,736	A/G	—	likely benign
rs1284904822	2:182,542,747	C/A	—	uncertain significance
rs1230228635	2:182,542,751	G/A	—	likely benign
rs1559135114	2:182,542,758	A/C	—	uncertain significance
rs1365446719	2:182,542,774	G/T	—	uncertain significance
rs2468609195	2:182,542,779	T/C	—	uncertain significance
rs1029071008	2:182,542,794	G/C	—	uncertain significance
rs761826783	2:182,542,795	T/G	—	uncertain significance
rs1308365461	2:182,542,802	A/T	—	likely benign
rs773096753	2:182,542,804	T/C	—	uncertain significance
rs968177372	2:182,542,807	G/C	—	uncertain significance
rs115027760	2:182,542,811	G/A	—	likely benign
rs751374620	2:182,542,816	C/T	—	uncertain significance
rs1190053153	2:182,542,821	A/T	—	uncertain significance
rs556602572	2:182,542,822	A/G	—	uncertain significance
rs577169847	2:182,542,823	G/A	—	likely benign
rs2105594483	2:182,542,824	G/A	—	likely pathogenic
rs767219230	2:182,542,827	T/G	—	uncertain significance
rs147634094	2:182,542,830	A/G	—	uncertain significance
rs1409840273	2:182,542,833	G/C	—	uncertain significance
rs2468609649	2:182,542,834	C/T	—	uncertain significance
rs375390710	2:182,542,837	C/A	—	benign
rs201293992	2:182,542,838	G/T	—	uncertain significance
rs780520468	2:182,542,842	T/C	—	uncertain significance
rs201542440	2:182,542,847	G/T	—	uncertain significance
rs115207271	2:182,542,850	C/T	—	likely benign
rs1236932661	2:182,542,859	C/G	—	uncertain significance

Showing 100 of 236 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.